Rethinking Ehlers Danlos Syndrome

[Merida]

Because of this forum I read an article in a medical journal and wrote to a researcher in another country concerning the many structural issues that I have, and run in my family, as possibly related to chronic fatigue and chronic pain. The researcher ( an M.D. and Ph.d.) kindly wrote back and mentioned that what I described is consistent with Ehlers Danlos Syndrome. Wow. He even gave the neurological connections as to why some of these congenital issues occur. Wow.

I understand that there are now (2017) 13 subtypes of Ehlers Danlos, and some other possible mutations not exactly categorized. Wow. I have been trying to understand the underlying genetic issue with me ( and my family) for 20 years. No one even mentioned EDS.

Interesting that the EDS support group often came to my Fibro/ chronic fatigue group. I noted that I and many of my group members shared similarities with the EDS people, but we did not have the classic hypermobile joints. Well, that is not necessarily found in all EDS profiles.

So, if you have some of these characteristics you may want to rethink and research EDS: scoliosis, long, redundant colon, Tarlov cysts ( if you have had sacral MRI), vascular irregularities like hemangiomas, hip/pelvis/ sacral pain, big bunions, mitral valve prolapse, high intracranial pressure, pelvic prolapses - rectal prolapse, bladder prolapse, small posterior fossa, neck instability, and ????

I hope to add more as I learn more.

 

[Paw]

Here's a question: how might confirmation of EDS affect your disease management/treatment?

I ask because EDS has been on my radar for a couple of years -- I even have suspicious hypermobile symptoms along with a lot of other possibly related clues. I've known about the different forms, but two or three docs have dismissed the possibility out of hand based only on my appearance, which apparently doesn't match the typical EDS profile.

It's always an enervating battle to get docs to consider something different, so I've just continued to keep an eye on the EDS possibility while trying to figure out if a diagnosis would even do anything to alter my already heavily managed illness.

So I'll be interested in what you learn.

 

[Cort]

Because of this forum I read an article in a medical journal and wrote to a researcher in another country concerning the many structural issues that I have, and run in my family, as possibly related to chronic fatigue and chronic pain. The researcher ( an M.D. and Ph.d.) kindly wrote back and mentioned that what I described is consistent with Ehlers Danlos Syndrome. Wow. He even gave the neurological connections as to why some of these congenital issues occur. Wow.

I understand that there are now (2017) 13 subtypes of Ehlers Danlos, and some other possible mutations not exactly categorized. Wow. I have been trying to understand the underlying genetic issue with me ( and my family) for 20 years. No one even mentioned EDS.

Interesting that the EDS support group often came to my Fibro/ chronic fatigue group. I noted that I and many of my group members shared similarities with the EDS people, but we did not have the classic hypermobile joints. Well, that is not necessarily found in all EDS profiles.

So, if you have some of these characteristics you may want to rethink and research EDS: scoliosis, long, redundant colon, Tarlov cysts ( if you have had sacral MRI), vascular irregularities like hemangiomas, hip/pelvis/ sacral pain, big bunions, mitral valve prolapse, high intracranial pressure, pelvic prolapses - rectal prolapse, bladder prolapse, small posterior fossa, neck instability, and ????

I hope to add more as I learn more.

It would be great to have a blog on this . I'm sure that too many of simply think of the classic kind of hypermobility. I know that I dod.

I had no idea there were 13 subtypes of EDS either. Have you had genetic testing done?

 

[Merida]

@Paw @Cort
Good question: How might a formal diagnosis of EDS change treatment approach? I don't know, but an EDS diagnosis may alert physicians to certain vascular/heart issues and dysautonomia issues not yet explored. And other issues : like getting a sacral MRI to check for Tarlov cysts - an indication of high intracranial pressure and/or abnormal connective tissue aspects of the dura - which lines the entire CNS????.

Here is what this researcher told me, " A long colon is the result of denervation of the colon due to impaired autonomic innervation as a consequence of pressure of the CSF inside the sacral canal nerves in combination with impaired connective tissue quality." " I am convinced that atlanto-cranial instability , scoliosis, and sacroiliac instability are just a symptom of Ehlers Danlos syndrome, rather than the cause of pain. Slipping of the TM joint may be the result of instability with irritation of the trigeminal motor innervation of the muscles of mastication. Autonomic dysfunction is also a symptom of the cerebrospinal pressure dysregulation syndrome. Intracranial hypertension is a common comorbudity in EDS. Intracranial pressure is a determinant of sympathetic activity."

He also attached some papers. Cort, I can forward to you. Think you have already posted one of these papers. Let's see, I will try to message you my email. Somehow, don't have yours? Would LOVE to do a blog, but I am struggling just to write this. Maybe we can talk.

The thing that this researcher did not mention is the cranial rhythmic pulses and the reciprocal movement of the cranial bones and the pelvic bones - from the great osteopaths and sacroiliac- occipital chiropractors.

I will have genetic testing if I can find someone in L.A. My son has definite symptoms, and I am concerned about a grandson who is 2. Since the genetic differences are very "heritable" it may be valuable for our families to know so that they don't struggle for 20 years without a correct diagnosis for their multiple health issues.

Thank you, Cort - it was an article on this site that inspired me to write to that researcher.

 

[Paw]

Fascinating, thanks for the notes. I'll try to look it up later, but I don't recall 23 and Me covering EDS -- I could be wrong -- my notes don't show it flagged for me anyway.

You've reminded me of so many connections that piqued my interest in EDS -- decades of TMJ, decades of IBS (diagnosed with diverticulitis, but perhaps FM related), diagnosed autonomic neuropathy, rubbery joints begging to be pulled and stretched to relieve the pain, and of course the intracranial pressure and sympathetic activation feels spot on. I dropped a grand on a brain MRI, but I probably should have concentrated on the sacral (but then I'd still be wondering about MS). Curiously, my high blood pressure has been resistant to treatment -- especially the diastolic, but I can't find any clues to what that might mean.

So I'm fascinated in this, but I'm lacking the free energy and free money to pursue it much -- until maybe I can pinpoint a strategy. Maybe I'll have to eventually by myself another MRI for my birthday, since Tarlov cysts actually be treatable.

(Edit: I forgot to mention my crippling hip problems, which docs and PTs can't explain.

 

[Merida]

@Paw
You sound exactly like me: diverticulitis, dysautonomia, episodic high blood pressure, when standing. ( If I lie on my right side, the BP can drop 40- 50 points to normal, low normal) Was diagnosed with diastolic dysfunction. Think the blood pressure spikes up to keep me from fainting??? Adrenals pump out chemicals to do this???

MS - yes, I attended an all day conference at a local hospital with UCLA MS experts. I mentioned to one of the researchers that by symptoms alone, there was no difference between fibro and MS. ( I led large support group 13 years.) She looked at me like I was crazy.

Are you very heat intolerant ?

The Tarlov cyst surgery is brutal and uncertain. I did not have it. The problem with high intracranial pressure and spinal fluid pooling in the sacral nerve roots seems to be a global one - from the brain to the sacrum. Read about the sacral occipital pump. There is a minute motion between the occiput and the sacrum ( and also specific motions of the cranial bones) that pump spinal fluid from the brain to the sacrum and back to the brain. This whole pump depends on the dura - meningeal system which lines the CNS. So, if the dura ( which is connective tissue) is too lax and stretchy, the whole pump could be "off." As well, if the sacrum and occiput/ Atlas relationship is injured, the pump is "off."
A real expert in body mechanics and sacral dysfunction is Jerry Hesch, Ph.D. Physical therapy. I hope to get there, and learn more.
One more thought : Is there some difference in the dura meningeal system that alters the blood brain barrier ? My son became ill after definite Epstein Barr infection, 1986, age 5.
God Bless.

 

[Issie]

I have EDS, POTS and MCAS. We call it the trilogy, they seem to go together. I've written about it a good bit both here and on DINET website. Lots if info out there. In past 2 years they changed classifications and refined subsets. I fit Hypermobile but may also be Classical. Geneticist decided I didn't need to do testing. Confirmed DX. Just mostly need to know you don't have Vascular type. As that type can be deadly.

Issie

 

[Paw]

Just mostly need to know you don't have Vascular type. As that type can be deadly.

Good to know!

Was diagnosed with diastolic dysfunction. Think the blood pressure spikes up to keep me from fainting??? Adrenals pump out chemicals to do this???

Lots of good question marks. I've searched several times and found little info on diastolic-specific BP problems.

Are you very heat intolerant ?

I was, but not incredibly so. Duloxetine helped considerably, so I don't think about it much anymore.

So, if the dura ( which is connective tissue) is too lax and stretchy, the whole pump could be "off."

...
Fascinating. You've set me off to do more reading. For decades I've felt like whenever I turn my head there's a layer of sand and pebbles that I can hear crunching and grinding throughout the base of my neck at the back and up toward my ears. I have no idea it it's related, but it doesn't feel right.

 

[Issie]

This is only one piece of my puzzle I'm glad to know some answers as to certain symptoms. I do feel that some things we think are "symptoms" are "compensations". We have to know the WHY. Some symptoms may be trying to "fix" something and is the lesser evil. I've found that I do better not trying to stop some of my bodies compensations as they are necessary.

I'm also still of the opinion that the issues are autoimmune and inflammation. I've been saying this for years. But what is causing those things? With me, more pieces of my puzzle are CIRS from mold and Lyme and inability to throw off biotoxins. There is usually a parasite connection to these things too. Usually there is leaky gut. Many times our diet is a key player. I've found being dairy, gluten and sugar free is very important. I'm also mostly grain free, nightshade and lectin free.

Issie

 

[Merida]

@Issie @Paw
Thanks for your interesting and helpful comments. Issie, yes, I have read a lot of your posts. Thank you - great stuff. Paw - wonderful posts from you, too. Thank you. I suspect there are yet to be defined aspects of these connective tissue differences. I have multiple 'fatty'- type lumps - large one on my shoulder, underneath upper arms. Think this is another aspect of a connective tissue difference.
Interesting that in the tethered cord research ( I am suspected of having this - by one of the neurosurgeon experts in the World) there are reports of a normal length spinal cord/filum terminal ( filum is connective tissue), but people experience tethered cord symptoms. However, the histochemical/cellular analysis of the filum revealed an abnormal connective tissue profile - containing fat cells. This makes the filum less elastic. ( Is a filum with a normal appearance really normal ? Mehmet Selcuki main author. Childs Nervous System. 2002)

@Issie - Think you are right about some symptoms are compensation symptoms for some important dysfunction. I have read about auto inflammation. Seems right for me too. I have a great immunologist following me, and my immune system checks out fine now, had high complement and tumor necrosis factor alpha years back.

I have a large technical reference book, Spinal Cord Medicine : Principles and Practice, Editor in Chief - Vernon W. Lin, MD. Ph.D. Interestingly, we have the same problems as people who have had obvious spinal cord injury. There is a whole chapter on Autonomic Dysfunction - " In humans, orthostatic hypotension occurs after acute SCI." A whole chapter on the immune system and inflammatory response after SCI. page 217 " . . . virtually all of the systemic phenomena known to be associated with chronic inflammation are seen in persons with longstanding SCI." "Deficits in immune function and the presence of a chronic inflammatory state have been documented in the acute and chronic phases of spinal cord injury." page 219 - " Experience has shown, however, that many of these laboratory abnormalities document a protective, adaptive response to tissue injury or invasion."

@Paw - neck grinding. Oh yeah. And MRI shows deterioration of C-4 through C-6 for me. Did you ever injure your sacrum/pelvis/tail bone - like big fall backwards ? Lots of soccer ? Accident ? A misaligned sacrum will take the neck out of place. Happened to me.

Some details why connective tissue is extremely important to the spinal cord and cauda equina:
At about L-1/ L-2 the spinal cord ends and branches into multiple smaller nerves ( cauda equina) and these nerves pass through holes in the sacrum and travel to the bowel, bladder, abdomen, legs, buttocks. The filum terminale ( connective tissue) attaches to the end of the spinal cord, travels down and fuses with the dura ( connective tissue) at S-2. Then this combined connective tissue travels to the tail bone, fuses with the tissue surrounding the tail bones. So, a tilted, rotated sacrum/pelvis/tailbone can put tension on the cauda equina and the filum terminale, which can be transferred right to the spinal cord. Thus, the filum connective tissue is extremely important as it helps stabilize the spinal cord, protect the spinal cord and cauda equina from excessive rotation and tension. Better stop here. God Bless.

 

[Stetson28]

Just out of curiosity for several of the folks who are trying to determine if you have EDS, do any of you have trouble tolerating alcohol was there a time when you could tolerate alcohol and how did that correlate to the progress of your illness?

 

[Issie]

I can't tolerate. But think that is MCAS (mast cell) related.

 

[Merida]

@Stetson28
I always had some trouble tolerating alcohol - my husband called me a 'cheap date' - i.e. only 1 glass of wine.
In the last several years, I have become less and less tolerant. Just a 1/4 glass of wine can make me very weak and feeling just awful. So, I think it is related to the regulation of the blood vessels ??? - they relax too much and blood pools in the legs and abdomen ?? So, I guess this is part of the dysautonomic situation ?? Diagnosed with that, but no good studies to prove it. Can you share ? Are you diagnosed with EDS??

 

[Issie]

Look in to MCAS with problems with alcohol. Mast cell degranulation can cause issues with circulation too.